A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis.
Screening newborns for cystic fibrosis (CF) is considered to be an ethical undertaking in regions with a significant incidence of the condition. Current screening protocols result in recognition of infants with an equivocal diagnosis. A survey of European practice suggested inconsistencies in the evaluation and management of these infants. We have undertaken a consensus process using a modified Delphi method. This has enabled input of CF specialists from a wide geographical area to a rigorous process that has provided a clear pathway to a consensus statement. A core group produced 21 statements, which were modified over a series of three rounds (including a meeting arranged at the European CF Conference). A final document of 19 statements was produced, all of which achieved a satisfactory level of consensus. The statements cover four themes; sweat testing, further assessments and investigations, review arrangements and database. This consensus document will provide guidance to CF specialists with established screening programmes and those who are in the process of implementing newborn screening in their region.
Mayell
S J
SJ
University of Liverpool, United Kingdom.
Munck
A
A
Craig
J V
JV
Sermet
I
I
Brownlee
K G
KG
Schwarz
M J
MJ
Castellani
C
C
Southern
K W
KW
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D012965:Sodium Chloride / Q000378:metabolism; D013542:Sweat / Q000378:metabolism
D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D012965:Sodium Chloride